A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542015



Internal ID15512478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:111123414..111226880hg38UCSC Ensembl
Innerchr9:113885694..113989160hg19UCSC Ensembl
Innerchr9:112925515..113028981hg18UCSC Ensembl
Innerchr9:110965249..111068715hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38103467
hg19103467
hg18103467
hg17103467
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466485
Supporting Variants
SamplesNINDS_26
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv542015
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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